Canonical Allele Identifier: CA1947585222
Community Standard Title: NM_019009.4(TOLLIP):c.184-1067G=
Gene: TOLLIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1291476C= , CM000673.2:g.1291476C= GRCh38
NC_000011.9:g.1312706C= , CM000673.1:g.1312706C= GRCh37
NC_000011.8:g.1269282C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019009.4:c.184-1067G= MANE Select NP_061882.2:n.184-1067G=
ENST00000317204.11:c.184-1067G= MANE Select ENSP00000314733.5:n.184-1067G=
NM_001318512.1:c.34-1067G= NP_001305441.1:n.34-1067G=
NM_001318512.2:c.34-1067G= NP_001305441.1:n.34-1067G=
NM_001318514.1:c.-24-1067G= NP_001305443.1:n.-24-1067G=
NM_001318514.2:c.-24-1067G= NP_001305443.1:n.-24-1067G=
NM_001318515.1:c.183+4169G= NP_001305444.1:n.183+4169G=
NM_001318515.2:c.183+4169G= NP_001305444.1:n.183+4169G=
NM_001318516.1:c.184-2700G= NP_001305445.1:n.184-2700G=
NM_001318516.2:c.184-2700G= NP_001305445.1:n.184-2700G=
NM_019009.3:c.184-1067G= NP_061882.2:n.184-1067G=
ENST00000263646.11:c.100-1067G= ENSP00000263646.6:n.100-1067G=
ENST00000317204.10:c.184-1067G= ENSP00000314733.5:n.184-1067G=
ENST00000525159.5:c.184-2700G= ENSP00000432668.1:n.184-2700G=
ENST00000527638.1:n.283-283G=
ENST00000527746.5:n.276-1067G=
ENST00000527886.5:c.-24-1067G= ENSP00000434035.1:n.-24-1067G=
ENST00000527938.5:c.183+4169G= ENSP00000432778.1:n.183+4169G=
ENST00000528719.1:n.345+350G=
ENST00000530506.5:c.34-1067G= ENSP00000436393.1:n.34-1067G=
ENST00000530541.1:c.34-1067G= ENSP00000434494.1:n.34-1067G=
XM_011520192.1:c.-24-1067G= XP_011518494.1:n.-24-1067G=
XR_001747910.2:n.309-1067G=